Clinical trials: Leukodystrophy, open to volunteers
Rare Disorders, Undiagnosed Disorders
Rare Disease Patient Registry & Natural History Study - Coordination of Rare Diseases at Sanford
The Coordination of Rare Diseases at Sanford (CoRDS) is an international patient registry that serves as a centralized resource for rare disease research.
- Conditions
- Rare Disorders, Undiagnosed Disorders, Disorders of Unknown Prevalence, Cornelia De Lange Syndrome
- Trial name
- CoRDS (NCT01793168)
- Where
- United States
- Volunteers
- 20,000 people
- Sponsor
- Sanford Health
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Reduced Intensity Conditioning for Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT
The objective of this study is to evaluate the efficacy of using a reduced-intensity condition (RIC) regimen with umbilical cord blood transplant (UCBT), double cord UCBT, matched unrelated donor (MUD) bone marrow transplant…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- HSCT+RIC (NCT01962415)
- Testing
- Hydroxyurea, Alemtuzumab, Fludarabine
- Where
- United States
- Volunteers
- 100 people
- Sponsor
- Paul Szabolcs
Krabbe Disease
Krabbe Disease Global Patient Registry
The purpose of this study is to develop a clinical database of individuals diagnosed with Krabbe disease in order to determine which symptoms herald the onset of clinical disease in the various phenotypes of Krabbe disease; to…
- Trial name
- NCT02993796
- Where
- United States
- Volunteers
- 60 people
- Sponsor
- State University of New York at Buffalo
Neurodegenerative Diseases, Leukodystrophy
Home Exercise for Individuals With Neurodegenerative Disease
The primary goal of this study is to address the need for targeted therapeutic interventions for impairments that impact walking in related neurodegenerative diseases.
- Conditions
- Neurodegenerative Diseases, Leukodystrophy, Ataxia, LBSL
- Trial name
- NCT05443906
- Testing
- Home exercise
- Where
- United States
- Volunteers
- 30 people, healthy volunteers welcome
- Sponsor
- Hugo W. Moser Research Institute at Kennedy Krieger, Inc.
Metachromatic Leukodystrophy (MLD)
Direct Lentiviral Injection Gene Therapy for MLD
This is a Phase I/II clinical trial of gene therapy for treating Metachromatic leukodystrophy (MLD) using a safety and efficacy improved self-inactivating lentiviral vector TYF-ARSA to functionally correct the genetic defect.
- Trial name
- NCT03725670
- Testing
- Intrathecal and intravenous LV gene therapy
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Lysosomal Storage Disorders, Sandhoff Disease
Safety, Tolerability, Pharmacokinetics, and Preliminary Efficacy of PLX-200 in Pediatric Patients (Master Protocol)
The purpose of this study is to evaluate the safety, tolerability and clinical activity of PLX-200 in pediatric patients with lysosomal storage disorders.
- Conditions
- Lysosomal Storage Disorders, Sandhoff Disease, Krabbe Disease, CLN2
- Trial name
- NCT07740512
- Testing
- PLX-200
- Volunteers
- 24 people
- Sponsor
- Polaryx Therapeutics, Inc.
Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes
Data Collection Study of Patients With Non-Malignant Disorders Undergoing UCBT, BMT or PBSCT With RIC
This is a data collection study that will examine the general diagnostic and treatment data associated with the reduced-intensity chemotherapy-based regimen paired with simple alemtuzumab dosing strata designed to prevented graft…
- Conditions
- Primary Immunodeficiency (PID), Congenital Bone Marrow Failure Syndromes, Inherited Metabolic Disorders (IMD), Hereditary Anemias
- Trial name
- PRO-RIC (NCT04528355)
- Testing
- data collection
- Where
- United States
- Volunteers
- 50 people
- Sponsor
- Paul Szabolcs
Adrenoleukodystrophy, Adrenomyeloneuropathy
Modeling Macrophages Activation Pattern in X-linked Adrenoleukodystrophy, Metachromatic Leukodystrophy and Adult Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
This study is a national, non-randomized, open-label, multi-site with minimal risk study in adult with adrenomyeloneuropathy (AMN), childhood and adult subjects with cerebral ALD (cALD), juvenile/adult metachromatic…
- Conditions
- Adrenoleukodystrophy, Adrenomyeloneuropathy, Metachromatic Leukodystrophy, Adult-Onset Leukoencephalopathy With Axonal Spheroids and Pigmented Glia
- Trial name
- MATRIX (NCT04925349)
- Testing
- Blood sample collection
- Where
- 2 sites in France
- Volunteers
- 100 people, healthy volunteers welcome
- Sponsor
- Assistance Publique - Hôpitaux de Paris
Metachromatic Leukodystrophy (MLD)
Lentiviral Hematopoietic Stem Cell Gene Therapy for MLD
This is a Phase I/II clinical trial of gene therapy for treating Metachromatic leukodystrophy (MLD) using a safety and efficacy improved self-inactivating lentiviral vector TYF-ARSA to transduce patient-derived hematopoietic stem…
- Trial name
- NCT07046338
- Testing
- Lentiviral TYF-ARSA correction of patient's autologous HSCs
- Where
- China
- Volunteers
- 10 people
- Sponsor
- Shenzhen Geno-Immune Medical Institute
Canavan Disease
A Study of AAV9 Gene Therapy in Participants With Canavan Disease (CANaspire Clinical Trial)
The main objective of this trial is to evaluate the safety, tolerability, and pharmacodynamic activity of BBP-812, an investigational AAV9-based gene therapy, in pediatric participants with Canavan disease.
- Trial name
- NCT04998396
- Testing
- AAV9 BBP-812
- Where
- 4 sites in United States
- Volunteers
- 26 people
- Sponsor
- Aspa Therapeutics
Leukodystrophy
Natural History, Diagnosis, and Outcomes for Leukodystrophies
The goals of this protocol is to diagnose, care for, and understand the clinical histories and outcomes of people with leukodystrophies.
- Trial name
- NCT03639285
- Where
- United States
- Volunteers
- 600 people
- Sponsor
- University of Utah
Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2
ScreenPlus: A Comprehensive, Flexible, Multi-disorder Newborn Screening Program
ScreenPlus is a consented, multi-disorder pilot newborn screening program implemented in conjunction with the New York State Newborn Screening Program that provides families the option to have their newborn(s) screened for a…
- Conditions
- Acid Sphingomyelinase Deficiency, Ceroid Lipofuscinosis, Neuronal, 2, Cerebrotendinous Xanthomatosis, Fabry Disease
- Trial name
- ScreenPlus (NCT05368038)
- Testing
- Confirmatory Testing
- Where
- 9 sites in United States
- Volunteers
- 100,000 people, healthy volunteers welcome
- Sponsor
- Albert Einstein College of Medicine
Inherited Disease, Rare Diseases
Longitudinal Study of Ultra-rare Inherited Metabolic and Degenerative Neurological Diseases.
General aim of the study is the improvement of the clinical knowledge of ultra-rare inherited metabolic and degenerative neurological diseases (prevalence less than 5:100,000) in adulthood through the systematic longitudinal…
- Conditions
- Inherited Disease, Rare Diseases, Metabolic Disease, Undiagnosed Disease
- Trial name
- NCT04880356
- Testing
- collection of data
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
Canavan Disease
rAAV-Olig001-ASPA Gene Therapy for Treatment of Children With Typical Canavan Disease
Canavan Disease is a congenital white matter disorder caused by mutations to the gene encoding for aspartoacylase (ASPA). Expression of ASPA is restricted to oligodendrocytes, the sole white matter producing lineage in the brain.
- Trial name
- CAN-GT (NCT04833907)
- Testing
- rAAV-Olig001-ASPA, Levetiracetam, Prednisone
- Where
- United States
- Volunteers
- 24 people
- Sponsor
- Myrtelle Inc.
Genetic Disease
Single Participant Study of an Experimental ASO Treatment for TUBB4A-related Leukodystrophy
This research project entails delivery of a personalized antisense oligonucleotide (ASO) drug designed for a single pediatric participant with TUBB4A associated leukodystrophy.
- Trial name
- NCT06369974
- Testing
- Antisense oligonucleotide treatment (ASO)
- Where
- United States
- Volunteers
- 1 people
- Sponsor
- Massachusetts General Hospital
Leukodystrophy, White Matter Disease
The Myelin Disorders Biorepository Project
The Myelin Disorders Biorepository Project (MDBP) seeks to collect and analyze clinical data and biological samples from leukodystrophy patients worldwide to support ongoing and future research projects.
- Conditions
- Leukodystrophy, White Matter Disease, Leukoencephalopathies, 4H Syndrome
- Trial name
- MDBP (NCT03047369)
- Where
- 23 sites in United States
- Volunteers
- 12,000 people
- Sponsor
- Children's Hospital of Philadelphia
Mitochondrial, Leukoencephalopathies
Natural History and Genotype-Phenotype Correlations in Mitochondrial Leukoencephalopathies
Mitochondrial disorders (MDs) are among the most common inherited metabolic diseases, caused by genetic defects in mitochondrial or nuclear DNA that impair cellular energy production.
- Conditions
- Mitochondrial, Leukoencephalopathies, Leukoencephalopathy
- Trial name
- Leuko Mito (NCT07868796)
- Where
- Italy
- Volunteers
- 100 people
- Sponsor
- Fondazione I.R.C.C.S. Istituto Neurologico Carlo Besta
MLD, Krabbe Disease
Longitudinal Study of Neurodegenerative Disorders
The purpose of this study is to understand the course of rare genetic disorders that affect the brain. This data is being analyzed to gain a better understanding of the progression of the rare neurodegenerative disorders and the…
- Conditions
- MLD, Krabbe Disease, ALD, MPS I
- Trial name
- NCT03333200
- Testing
- Palliative Care, Hematopoetic Stem Cell Transplantation
- Where
- United States
- Volunteers
- 1,500 people
- Sponsor
- University of Pittsburgh
Adrenoleukodystrophy, Batten Disease
UCB Transplant of Inherited Metabolic Diseases With Administration of Intrathecal UCB Derived Oligodendrocyte-Like Cells
The primary objective of the study is to determine the safety and feasibility of intrathecal administration of DUOC-01 in patients who are undergoing standard treatment with umbilical cord blood transplant (UCBT) for inborn…
- Conditions
- Adrenoleukodystrophy, Batten Disease, Mucopolysaccharidosis II, Leukodystrophy, Globoid Cell
- Trial name
- DUOC-01 (NCT02254863)
- Testing
- DUOC-01
- Where
- United States
- Volunteers
- 40 people
- Sponsor
- Joanne Kurtzberg, MD